Canonical Allele Identifier: CA394382814

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161585T>A (hg19) ; chr16:g.2111584T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111584T>A , CM000678.2:g.2111584T>A	GRCh38
NC_000016.9:g.2161585T>A , CM000678.1:g.2161585T>A	GRCh37
NC_000016.8:g.2101586T>A	NCBI36
NG_008617.1:g.29315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3583A>T MANE Select	ENSP00000262304.4:p.Asn1195Tyr
ENST00000262304.8:c.3583A>T	ENSP00000262304.4:p.Asn1195Tyr
ENST00000415938.7:n.310+756A>T
ENST00000423118.5:c.3583A>T	ENSP00000399501.1:p.Asn1195Tyr
ENST00000468674.5:n.430+756A>T
ENST00000469241.2:n.533A>T
ENST00000483024.1:c.233+232A>T
ENST00000483731.5:n.790+756A>T
ENST00000488185.2:c.473-3226A>T
ENST00000565639.6:n.773+756A>T
ENST00000568591.5:c.2226+756A>T	ENSP00000457162.1:n.2226+756A>T
ENST00000569983.5:n.421+756A>T
NM_000296.3:c.3583A>T	NP_000287.3:p.Asn1195Tyr
NM_001009944.2:c.3583A>T	NP_001009944.2:p.Asn1195Tyr
XM_005255370.2:c.538A>T	XP_005255427.1:p.Asn180Tyr
XM_011522525.1:c.3661A>T	XP_011520827.1:p.Asn1221Tyr
XM_011522526.1:c.3661A>T	XP_011520828.1:p.Asn1221Tyr
XM_011522527.1:c.3661A>T	XP_011520829.1:p.Asn1221Tyr
XM_011522528.1:c.3637A>T	XP_011520830.1:p.Asn1213Tyr
XM_011522529.1:c.3637A>T	XP_011520831.1:p.Asn1213Tyr
XM_011522530.1:c.3607A>T	XP_011520832.1:p.Asn1203Tyr
XM_011522531.1:c.3589A>T	XP_011520833.1:p.Asn1197Tyr
XM_011522532.1:c.3535A>T	XP_011520834.1:p.Asn1179Tyr
XM_011522533.1:c.3454A>T	XP_011520835.1:p.Asn1152Tyr
XM_011522534.1:c.3397A>T	XP_011520836.1:p.Asn1133Tyr
XM_011522535.1:c.1483A>T	XP_011520837.1:p.Asn495Tyr
XM_011522536.1:c.3661A>T	XP_011520838.1:p.Asn1221Tyr
XM_011522537.1:c.661A>T	XP_011520839.1:p.Asn221Tyr
XR_932867.1:n.3676A>T
XR_932868.1:n.3676A>T
XR_932869.1:n.3676A>T
XR_932870.1:n.3676A>T
XM_005255370.3:c.538A>T	XP_005255427.1:p.Asn180Tyr
XM_011522528.3:c.3637A>T	XP_011520830.1:p.Asn1213Tyr
XM_011522529.2:c.3637A>T	XP_011520831.1:p.Asn1213Tyr
XM_011522537.2:c.661A>T	XP_011520839.1:p.Asn221Tyr
XM_024450298.1:c.3703A>T	XP_024306066.1:p.Asn1235Tyr
XM_024450299.1:c.3631A>T	XP_024306067.1:p.Asn1211Tyr
XM_024450300.1:c.3493A>T	XP_024306068.1:p.Asn1165Tyr
XM_024450301.1:c.1579A>T	XP_024306069.1:p.Asn527Tyr
NM_000296.4:c.3583A>T	NP_000287.4:p.Asn1195Tyr
NM_001009944.3:c.3583A>T MANE Select	NP_001009944.3:p.Asn1195Tyr